NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 4, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002354890.3

Allele description [Variation Report for NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)]

NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)

Gene:

CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

Preferred name:

NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)

HGVS:

NC_000008.11:g.60852691G>A
NG_007009.1:g.178912G>A
NM_001316690.1:c.1717-9538G>A
NM_017780.4:c.6088G>AMANE SELECT
NP_060250.2:p.Val2030Ile
LRG_176t1:c.6088G>A
LRG_176:g.178912G>A
NC_000008.10:g.61765250G>A
NC_000008.10:g.61765250G>A
NM_017780.2:c.6088G>A
NM_017780.3:c.6088G>A
NM_017780.4:c.6088G>A

Protein change:

V2030I

Links:

dbSNP: rs143796440

NCBI 1000 Genomes Browser:

rs143796440

Molecular consequence:

NM_001316690.1:c.1717-9538G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.6088G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002656267	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 4, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002656267

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 4, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002656267.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.V2030I variant (also known as c.6088G>A), located in coding exon 29 of the CHD7 gene, results from a G to A substitution at nucleotide position 6088. The valine at codon 2030 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine